This website provides information on patients with mutations in the MDH1 gene, including clinical data, molecular data, management and research options.

Malate dehydrogenase deficiency is a syndrome caused by a recessive mutation in the MDH1 gene. So far this pathogenic variant has only been identified in two patients, therefor, the complete phenotypic spectrum is unknown. Based on the identified patients, MDH1 deficiency is a multisystem disorder characterized by epileptic encephalopathy, global developmental delay, progressive microcephaly and facial dysmorphism.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the MDH1 gene.

Judith Jans, PhD, University Medical Center Utrecht, Utrecht, The Netherlands, j.j.m.jans@umcutrecht.nl